Description
Product Characteristics: Murine choline-O-acetyltransferase (EC 2.3.1.6) is a 71,721 dalton protein (640 amino acids) expressed in cholinergic neurons of both the PNS and CNS. In the CNS, ChAT is expressed in motor neurons and pre-ganglionic autonomic neurons of the spinal cord, a subset of neurons in the neostriatum, and in the basal forebrain. In the PNS, ChAT is expressed in a small subpopulation of sympathetic neurons and in all parasympathetic neurons. ChAT is the enzyme responsible for synthesis of acetylcholine from acetyl-coenzyme A and choline.
Target Information: This gene encodes an enzyme which catalyzes the biosynthesis of the neurotransmitter acetylcholine. This gene product is a characteristic feature of cholinergic neurons, and changes in these neurons may explain some of the symptoms of Alzheimer's disease. Polymorphisms in this gene have been associated with Alzheimer's disease and mild cognitive impairment. Mutations in this gene are associated with congenital myasthenic syndrome associated with episodic apnea. Multiple transcript variants encoding different isoforms have been found for this gene, and some of these variants have been shown to encode more than one isoform. [provided by RefSeq, May 2010]